ClinVar Miner

List of variants in gene ITPR1 reported as likely benign for not specified

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_001378452.1(ITPR1):c.1951C>T (p.Leu651=) rs375234629 0.00016
NM_001378452.1(ITPR1):c.1450G>A (p.Val484Ile) rs752031193 0.00013
NM_001378452.1(ITPR1):c.780G>A (p.Gln260=) rs549363319 0.00008
NM_001378452.1(ITPR1):c.3565-4C>T rs374122245 0.00006
NM_001378452.1(ITPR1):c.3494C>T (p.Thr1165Met) rs755486931 0.00004
NM_001378452.1(ITPR1):c.279C>T (p.His93=) rs371299264 0.00003
NM_001378452.1(ITPR1):c.4719C>G (p.Leu1573=) rs375679048 0.00002
NM_001378452.1(ITPR1):c.6300C>G (p.Ala2100=) rs974085034 0.00002
NM_001378452.1(ITPR1):c.3228C>T (p.His1076=) rs766131451 0.00001
NM_001378452.1(ITPR1):c.5835C>T (p.Asp1945=) rs201949292 0.00001
NM_001378452.1(ITPR1):c.6603G>A (p.Thr2201=) rs149339933 0.00001
NM_001378452.1(ITPR1):c.3705C>G (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.6180+13C>T

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